Variant Results

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Results for "AP2B1"

Variant Events: 12

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

AP2B1

AU3721301

chr17:
34043077-34043077

G

A

intronic

De novo

-

-

Yuen2017 G

AP2B1

1-0067-005

chr17:
33949548-33949548

C

CTT

intronic

De novo

-

-

Yuen2017 G

AP2B1

11824.p1

chr17:
33998754-33998754

T

C

intronic

De novo

-

Satterstrom2020 E

AP2B1

SP0137258

chr17:
34044339-34044339

C

G

exonic

De novo

nonsynonymous SNV

NM_001282
NM_001030006

c.C2710G
c.C2752G

p.R904G
p.R918G

22.1

-

Fu2022 E

AP2B1

2-0307-003

chr17:
34012727-34012727

T

G

intronic

De novo

-

-

Yuen2017 G

AP2B1

AU3646301

chr17:
33961047-33961047

T

G

intronic

De novo

-

-

Yuen2017 G

AP2B1

2-0238-003

chr17:
33985856-33985856

G

A

intronic

De novo

-

-

Yuen2017 G

AP2B1

Codina-Sola2015:ASD_34

chr17:
33966782-33966782

A

G

intronic

Maternal

-

Codina-Sola2015 E

AP2B1

AU2019302

chr17:
33959287-33959287

G

A

intronic

De novo

-

-

Yuen2017 G

AP2B1

12594.p1

chr17:
33998753-33998753

C

CTTT

intronic

De novo

-

-

Satterstrom2020 E

AP2B1

1-0294-003

chr17:
33928093-33928093

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

AP2B1

2-0018-004

chr17:
34034768-34034769

AC

A

intronic

De novo

-

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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